Canonical Allele Identifier: CA2580079033

Gene: NBN

Linked Data

• ClinVar Variation Id: 2021879
• ClinVar RCV Id: RCV002866437

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89946145del , CM000670.2:g.89946145del	GRCh38
NC_000008.10:g.90958373del , CM000670.1:g.90958373del	GRCh37
NC_000008.9:g.91027549del	NCBI36
NG_008860.1:g.43531del , LRG_158:g.43531del

Transcript Alleles

HGVS	Amino-acid change
ENST00000494804.2:n.3371del
ENST00000517337.2:c.1823del	ENSP00000429971.2:p.Lys608ArgfsTer19
ENST00000523444.2:c.1823del	ENSP00000428252.2:p.Lys608ArgfsTer19
ENST00000697292.1:c.2069del	ENSP00000513229.1:p.Lys690ArgfsTer19
ENST00000697293.1:c.2069del	ENSP00000513230.1:p.Lys690ArgfsTer19
ENST00000697294.1:c.*1680del	ENSP00000513231.1:n.*1680del
ENST00000697295.1:c.*1378del	ENSP00000513232.1:n.*1378del
ENST00000697296.1:c.*1737del	ENSP00000513233.1:n.*1737del
ENST00000697297.1:n.3854del
ENST00000697298.1:c.1823del	ENSP00000513234.1:p.Lys608ArgfsTer19
ENST00000697299.1:c.1823del	ENSP00000513235.1:p.Lys608ArgfsTer19
ENST00000697300.1:c.*1673del	ENSP00000513236.1:n.*1673del
ENST00000697301.1:c.*1590del	ENSP00000513237.1:n.*1590del
ENST00000697302.1:c.*1590del	ENSP00000513238.1:n.*1590del
ENST00000697303.1:c.*1673del	ENSP00000513239.1:n.*1673del
ENST00000697304.1:c.1757del	ENSP00000513240.1:p.Lys586ArgfsTer19
ENST00000697306.1:c.*2620del	ENSP00000513241.1:n.*2620del
ENST00000697307.1:c.1846-2775del	ENSP00000513242.1:n.1846-2775del
ENST00000697308.1:c.2000del	ENSP00000513243.1:p.Lys667ArgfsTer19
ENST00000697309.1:c.2069del	ENSP00000513244.1:p.Lys690ArgfsTer19
ENST00000697310.1:c.2069del	ENSP00000513245.1:p.Lys690ArgfsTer19
ENST00000697311.1:c.2069del	ENSP00000513246.1:p.Lys690ArgfsTer19
ENST00000697312.1:c.*1467del	ENSP00000513247.1:n.*1467del
ENST00000697313.1:n.2688-10529del
ENST00000697314.1:n.3636+7103del
ENST00000697315.1:c.2069del	ENSP00000513248.1:p.Lys690ArgfsTer19
ENST00000697316.1:n.2190del
ENST00000697317.1:n.2160del
ENST00000265433.8:c.2069del MANE Select	ENSP00000265433.4:p.Lys690ArgfsTer19
ENST00000265433.7:c.2069del	ENSP00000265433.3:p.Lys690ArgfsTer19
ENST00000396252.6:c.*1942del	ENSP00000379551.2:n.*1942del
ENST00000409330.5:c.1823del	ENSP00000386924.1:p.Lys608ArgfsTer19
ENST00000520325.1:n.485del
ENST00000613033.1:c.180+1683del	ENSP00000484487.1:n.180+1683del
NM_001024688.2:c.1823del	NP_001019859.1:p.Lys608ArgfsTer19
NM_002485.4:c.2069del , LRG_158t1:c.2069del	NP_002476.2:p.Lys690ArgfsTer19
XM_011517044.1:c.2045del	XP_011515346.1:p.Lys682ArgfsTer19
XM_011517045.1:c.1823del	XP_011515347.1:p.Lys608ArgfsTer19
XM_017013460.1:c.1190del	XP_016868949.1:p.Lys397ArgfsTer19
XM_017013462.2:c.1190del	XP_016868951.1:p.Lys397ArgfsTer19
XM_024447163.1:c.1823del	XP_024302931.1:p.Lys608ArgfsTer19
XM_024447164.1:c.1823del	XP_024302932.1:p.Lys608ArgfsTer19
XM_024447165.1:c.1190del	XP_024302933.1:p.Lys397ArgfsTer19
NM_002485.5:c.2069del MANE Select	NP_002476.2:p.Lys690ArgfsTer19
NM_001024688.3:c.1823del	NP_001019859.1:p.Lys608ArgfsTer19